Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Glu120Lys

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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Mitochondrial dysfunction of induced pluripotent stem cells-based neurodegenerative disease modeling and therapeutic strategy.

Frontiers In Cell And Developmental Biology

Luo, Hong-Mei HM; Xu, Jia J; Huang, Dan-Xia DX; Chen, Yun-Qiang YQ; Liu, Yi-Zhou YZ; Li, Ya-Jie YJ; Chen, Hong H

Publication Date: 2022

Variant appearance in text: PSEN1: E120K

PubMed Link: 36478742

Variant Present in the following documents:

• Main text
• fcell-10-1030390.pdf

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Glu120Lys

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: E120K

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T

Publication Date: 2022-05

Variant appearance in text: PSEN1: E120K

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: PSEN1: Glu120Lys

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

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Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Frontiers In Psychiatry

Zhang, Shouzi S; Li, Xiang X; Zhang, Li L; Meng, Xiangyan X; Ma, Li L; Zhang, Guangze G; Wu, Haiyan H; Liang, Ling L; Cao, Meng M; Mei, Fan F

Publication Date: 2020

Variant appearance in text: PSEN1: E120K

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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Investigation of pathology, expression and proteomic profiles in human TREM2 variant postmortem brains with and without Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Toomey, Christina E CE; Heywood, Wendy W; Benson, Bridget C BC; Packham, Georgia G; Mills, Kevin K; Lashley, Tammaryn T

Publication Date: 2020-07

Variant appearance in text: PSEN1: E120K

PubMed Link: 32267026

Variant Present in the following documents:

• Main text
• BPA-30-794.pdf

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PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Scientific Reports

Kim, Young-Eun YE; Cho, Hanna H; Kim, Hee Jin HJ; Na, Duk L DL; Seo, Sang Won SW; Ki, Chang-Seok CS

Publication Date: 2020-02-26

Variant appearance in text: PSEN1: Glu120Lys; rs63750800

PubMed Link: 32103039

Variant Present in the following documents:

• Main text
• 41598_2020_Article_59829.pdf

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Glu120Lys

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: E120K

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia.

Experimental Neurobiology

Li, Ling L; Roh, Jee Hoon JH; Chang, Eun Hyuk EH; Lee, Yoonkyung Y; Lee, Suji S; Kim, Minchul M; Koh, Wonyoung W; Chang, Jong Wook JW; Kim, Hee Jin HJ; Nakanishi, Mahito M; Barker, Roger A RA; Na, Duk L DL; Song, Jihwan J

Publication Date: 2018-10

Variant appearance in text: PSEN1: Glu120Lys

PubMed Link: 30429645

Variant Present in the following documents:

• Main text
• en-27-350.pdf

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The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer's disease.

Acta Neuropathologica

Kvartsberg, Hlin H; Lashley, Tammaryn T; Murray, Christina E CE; Brinkmalm, Gunnar G; Cullen, Nicholas C NC; Höglund, Kina K; Zetterberg, Henrik H; Blennow, Kaj K; Portelius, Erik E

Publication Date: 2019-01

Variant appearance in text: PSEN1: E120K

PubMed Link: 30244311

Variant Present in the following documents:

• Main text

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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Glu120Lys

PubMed Link: 30200536

Variant Present in the following documents:

• Main text

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The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease.

Acta Neuropathologica Communications

Murray, Christina E CE; Gami-Patel, Priya P; Gkanatsiou, Eleni E; Brinkmalm, Gunnar G; Portelius, Erik E; Wirths, Oliver O; Heywood, Wendy W; Blennow, Kaj K; Ghiso, Jorge J; Holton, Janice L JL; Mills, Kevin K; Zetterberg, Henrik H; Revesz, Tamas T; Lashley, Tammaryn T

Publication Date: 2018-07-20

Variant appearance in text: PS1: E120K

PubMed Link: 30029687

Variant Present in the following documents:

• Main text
• 40478_2018_Article_563.pdf

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Glu120Lys

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Keihaninejad, Shiva S; Shakespeare, Timothy J TJ; Lehmann, Manja M; Crutch, Sebastian J SJ; Malone, Ian B IB; Thornton, John S JS; Mancini, Laura L; Hyare, Harpreet H; Yousry, Tarek T; Ridgway, Gerard R GR; Zhang, Hui H; Modat, Marc M; Alexander, Daniel C DC; Rossor, Martin N MN; Ourselin, Sebastien S; Fox, Nick C NC

Publication Date: 2013-05

Variant appearance in text: PSEN1: E120K

PubMed Link: 23539189

Variant Present in the following documents:

• Main text
• awt065.pdf

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Cerebral microbleeds in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Bastos-Leite, António J AJ; Rohrer, Jonathan D JD; Werring, David J DJ; Fox, Nick C NC; Rossor, Martin N MN; Schott, Jonathan M JM

Publication Date: 2012-01

Variant appearance in text: PSEN1: E120K

PubMed Link: 21685457

Variant Present in the following documents:

• Main text

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